My son was born with this eye disease. It's pretty much a clashing of genes. I know that eventually he will lose what sight he has, my question is at what age is it most expected to lose full sight? Serious people only please. i'm sorry ......is there anyone that knows someone with the eye disease! Hi,
I am a doctor..
You must be talking about Leber's Hereditary Optic Neuropathy (LHON) , also known as Leber's Optic Atrophy (LOA) , Leber's Optic Neuropathy (LON) or Leber's Disease. It is often referred to as just Leber's for short..
Leber's Hereditary Optic Neuropathy is a rare condition which can cause loss of central vision. It usually affects men, most commonly in the late twenties or early thirties, but the symptoms can happen at any age, to men or women.
Leber's Hereditary Optic Neuropathy was first described by Theodore Leber in the 19th century, but we only really started to understand the inheritance and cause of Leber's in the late 1980's.
Usually Leber's affects one eye first, so central vision is lost in that eye over a period of a few weeks. One or two months later, the second eye is affected in the same way. The time when someone is losing their eyesight is often called the 'acute' period. After a few more weeks, the eyesight stops getting worse.
Although that describes the most common pattern for Leber's, it can also affect someone very suddenly, or can affect them more gradually over a period of years.
Leber's is a genetic condition, that is, it is passed down through the family. Not everyone in a family affected by Leber's will lose their eyesight, and we do not yet know how to tell who will get symptoms.
We do know that Leber's is inherited through a gene which is only passed on through the egg cell from the mother. Men cannot pass on Leber's Hereditary Optic Neuropathy to their children.
Leber's Hereditary Optic Neuropathy is linked to a number of genes, all in the DNA of structures called Mitochondria. These provide energy to the cells of the body. We believe that the particdular gene changes linked to Leber's Hereditary Optic Neuropathy lower the amount of energy available to the cells of the optic nerve and retina. These cells are damaged and can even die because of this lack of energy. The damage to the optic nerve and retina is what causes the symptoms of Leber's.
Doctors at the University of Newcastle and in Munich are running a clinical trial of the drug Idebenone for treating people RECENTLY affected by LHON. They are looking for people affected by LHON within the last 3 months who are willing to take part in the trial.
If you live in the United Kingdom and have recently developed the symptoms of LHON then you may be eligible to take part in this trial. If you know someone who may be eligible please pass this information on to them.
The disease was first described by the German eye specialist Theodore Leber in 1871.
The illness usually occurs in men, although some women can be affected.
There is no warning of the onset of the condition
Once a member of a family is diagnosed as having Leber's Hereditary Optic Neuropathy (LHON) then other members of the family are known to be potential sufferers or carriers.
There is no way of predicting whether or not an "at risk" person will develop symptons of LHON. Not every "at risk" individual becomes a sufferer.
Only women can pass the problem on to their children, men are not known to pass on the disease.
Eyesight can deteriorate over a period of hours to months. Both eyes are typically involved, although to varying degrees. Very rarely eyesight may improve or recover.
Most LHON sufferers are registered (legally) blind, although many retain enough useable eyesight to remain mobile, i.e. they can move around in familiar surroundings without any trouble but cannot drive a car or read without massive magnification.
Typically, sufferers cannot recognise people in the street, although they may be able to make out moving shapes as they approach. Ordinary eyeglasses or contact lenses are of no practical help as they alter focal length and not magnification. Low Visual Aids to help with reading are available from the National Health Service and some opticians.
There is no known cause or cure for the disease. Genetic defects have been identified in some sufferers, but this does not yet help to predict future sufferers as many people carry the genetic defect but do not lose their vision.
There is often no way to recognise a sufferer in public as the defect is in the optic nerve. The eyes appear perfectly normal.
http://lhon.ncl.ac.uk/
This website will provide with you with information about this new trial which is looking at the drug idebenone (SNT-MC17) as a possible treatment in Leber's Hereditary Optic Neuropathy (LHON). It will allow you to check whether you are eligible to take part in this trial and how to contact the research team if you are interested in getting involved.
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